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Table 2 Summary of pathogenic mutations caused CORD reported thus far

From: Identification of a novel RPGR mutation associated with X-linked cone-rod dystrophy in a Chinese family

Nucleotide and amino acid changes

Patient age

Patient population

Literature PMID

NM_001034853.1(RPGR): c.2447_2461delCTCCCCTTCATCTCC(p.Gly816Glufs)

40/not provided

2

11,875,055

NM_001034853.1(RPGR):c.2847_2848delAGinsCT (p.Glu949_Glu950delinsAspTer)

37,40,48,51,74

5

15,914,600

NM_001034853.1(RPGR):c.2929G > T(p.Gly977Ter)

22,44,50,70,73

8

15,914,600

NM_001034853.1(RPGR):c.3092_3093delAG (p.Glu1031Glyfs)

not provided

not provided

11,857,109

NM_001034853.1(RPGR):c.3096_3097delGG (p.Glu1033Argfs)

47/not provided

2

32,047,640

47

not provided

11,857,109

50,74

2

11,875,055

NM_001034853.1(RPGR):c.3104_3105delAG (p.Glu1035Glyfs)

11

2

32,047,640

NM_001034853.1(RPGR):c.3178_3179delGA (p.Glu1060Argfs)

50

1

32,047,640

NM_001034853.1(RPGR):c.3308_3309delAT (p.Tyr1103Serfs)

74

1

32,047,640

NM_001034853.1(RPGR):c.3399delG(p.Pro1134Hisfs)

57

2

32,047,640